Disease: Long QT Syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 GeneticVariation disease BEFREE Genetic testing confirmed the diagnosis of WRS via identification of a novel biallelic frameshift mutation in the EIF2AK3 gene. 30922274 2019
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 GeneticVariation disease BEFREE WRS is caused by biallelic mutations in the gene encoding eukaryotic translation initiation factor 2alpha kinase 3 (EIF2AK3). 28843469 2018
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 GeneticVariation disease BEFREE Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. 25659842 2015
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 GeneticVariation disease BEFREE We suggest the screening for EIF2AK3 gene mutations as WRS is now recognized as the most frequent cause of neonatal diabetes in children with consanguineous parents. 24168455 2014
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 Biomarker disease BEFREE The clinical suspicion of WRS was confirmed by molecular analysis of the EIF2AK3 gene. 24859506 2014
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 GeneticVariation disease BEFREE Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis. 23759358 2013
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 GeneticVariation disease BEFREE The EIF2AK3 c.1259delA mutation results in a variable phenotype, ranging from isolated PND to typical WRS. 23585173 2013
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 GeneticVariation disease BEFREE Background Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal diabetes (PNDM), skeletal dysplasia, and recurrent hepatitis. 28156240 2013
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 GeneticVariation disease BEFREE Mutations in the EIF2AK3 gene were described in patients with WRS and defects in this gene lead to increased susceptibility to apoptotic cell death. 22991235 2012
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 GeneticVariation disease BEFREE A clinical diagnosis of WRS was confirmed by the identification of a novel homozygous nonsense mutation (R491X) in exon 9 of the EIF2AK3 gene. 22672868 2012
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 GeneticVariation disease BEFREE In the present study, we analyzed the EIF2AK3 gene in a 10-year-old WRS patient and his parents to study the clinical features and the mechanism for genetic onset of WRS. 21648287 2011
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 GeneticVariation disease BEFREE Genetic counselling and antenatal diagnosis is recommended for parents of a WRS patient with confirmed EIF2AK3 mutation. 21050479 2010
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 GeneticVariation disease BEFREE The coding regions of EIF2AK3 were sequenced in 34 probands with infancy-onset diabetes with a clinical phenotype suggestive of WRS (n = 28) or homozygosity at the WRS locus (n = 6). 19837917 2009
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 GeneticVariation disease BEFREE Our data suggest that disruption of the EIF2AK3 gene may lead to defective mitochondrial fatty acid oxidation and hypoglycaemia, thus adding to the heterogeneous phenotype of WRS. 18500571 2008
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 Biomarker disease BEFREE The patient with no EIF2AK3 involvement did not have any of the other variable clinical manifestations associated with WRS, which supports the idea that the genetic heterogeneity between this variant form of WRS and EIF2AK3 WRS correlates with some clinical heterogeneity. 15220213 2004
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 Biomarker disease BEFREE This is the first case in which the pathophysiological role of EIF2AK3 deficiency in WRS is confirmed at the molecular level. 12086964 2002
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.100 Biomarker disease BEFREE Our results provide evidence for the role of EIF2AK3 in WRS. 10932183 2000